Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing

Yong Hui Jiang;Ryan K.C. Yuen;Xin Jin;Mingbang Wang;Nong Chen;Xueli Wu;Jia Ju;Junpu Mei;Yujian Shi;Mingze He;Guangbiao Wang;Jieqin Liang;Zhe Wang;Dandan Cao;Melissa T. Carter;Christina Chrysler;Irene E. Drmic;Jennifer L. Howe;Lynette Lau;Christian R. Marshall;Daniele Merico;Thomas Nalpathamkalam;Bhooma Thiruvahindrapuram;Ann Thompson;Mohammed Uddin;Susan Walker;Jun Luo;Evdokia Anagnostou;Lonnie Zwaigenbaum;Robert H. Ring;Jian Wang;Clara Lajonchere;军 王;Andy Shih;Peter Szatmari;焕明 杨;Geraldine Dawson;Yingrui Li;Stephen W. Scherer

Duke University;University of Toronto;CAS - Beijing Institute of Genomics;University of Pennsylvania;South China University of Technology;McMaster University;National Supercomputing Center in Tianjin;University of Alberta;Autism Speaks Inc;University of Copenhagen;King Abdulaziz University;Aarhus University;University of North Carolina at Chapel Hill

发表时间:2013-8-8

期 刊:American Journal of Human Genetics

语 言:English

U R L: http://www.scopus.com/inward/record.url?scp=84881664021&partnerID=8YFLogxK

摘要

Autism Spectrum Disorder (ASD) demonstrates high heritability and familial clustering, yet the genetic causes remain only partially understood as a result of extensive clinical and genomic heterogeneity. Whole-genome sequencing (WGS) shows promise as a tool for identifying ASD risk genes as well as unreported mutations in known loci, but an assessment of its full utility in an ASD group has not been performed. We used WGS to examine 32 families with ASD to detect de novo or rare inherited genetic variants predicted to be deleterious (loss-of-function and damaging missense mutations). Among ASD probands, we identified deleterious de novo mutations in six of 32 (19%) families and X-linked or autosomal inherited alterations in ten of 32 (31%) families (some had combinations of mutations). The proportion of families identified with such putative mutations was larger than has been previously reported; this yield was in part due to the comprehensive and uniform coverage afforded by WGS. Deleterious variants were found in four unrecognized, nine known, and eight candidate ASD risk genes. Examples include CAPRIN1 and AFF2 (both linked to FMR1, which is involved in fragile X syndrome), VIP (involved in social-cognitive deficits), and other genes such as SCN2A and KCNQ2 (linked to epilepsy), NRXN1, and CHD7, which causes ASD-associated CHARGE syndrome. Taken together, these results suggest that WGS and thorough bioinformatic analyses for de novo and rare inherited mutations will improve the detection of genetic variants likely to be associated with ASD or its accompanying clinical symptoms.

相关科学

生物化学、遗传学和分子生物学
遗传学
医学
遗传学(临床)

被引量

期刊度量

Scopus度量

年份 CiteScore SJR SNIP
1996
1997
1998
1999 4.516 2.655
2000 5.27 2.811
2001 5.7 2.868
2002 5.244 2.606
2003 6.037 2.893
2004 7.355 3.306
2005 7.381 3.481
2006 7.184 3.356
2007 6.785 3.151
2008 6.862 2.788
2009 8.025 3.079
2010 9.81 3.272
2011 20.8 8.479 3.111
2012 17.4 7.814 3.059
2013 19 7.863 3.015
2014 20.4 8.801 3.163
2015 21.3 8.755 3.009
2016 17.6 7.504 2.597
2017 16.1 7.45 2.488
2018 15.9 6.97 2.559
2019 16.9 7.376 2.892
2020 16.7 6.661 2.976
2021 13.5

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